Variant report

Variant	nsv879879
Chromosome Location	chr4:124893772-124971109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:124946011..124949360-chr4:124952812..124956213,3	K562	blood:
2	chr4:124902976..124905856-chr4:124908350..124910069,2	MCF-7	breast:
3	chr4:124908353..124909167-chrX:18527422..18528088,2	MCF-7	breast:
4	chr4:124953673..124956153-chr4:124956275..124958591,2	K562	blood:
5	chr4:124946328..124947831-chr4:124951765..124954577,2	K562	blood:
6	chr4:124911069..124913038-chr4:124917106..124920005,2	MCF-7	breast:
7	chr4:124946328..124947831-chr4:124951765..124954577,2	K562	blood:
8	chr4:124946011..124949360-chr4:124952812..124956213,3	K562	blood:
9	chr4:124953673..124956153-chr4:124956275..124958591,2	K562	blood:
10	chr4:124953803..124954442-chr9:110731103..110731979,2	MCF-7	breast:
11	chr4:124911069..124913038-chr4:124917106..124920005,2	MCF-7	breast:
12	chr4:124902976..124905856-chr4:124908350..124910069,2	MCF-7	breast:
13	chr4:124693711..124694660-chr4:124911167..124912152,7	MCF-7	breast:
14	chr4:124693285..124694245-chr4:124911389..124911929,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD50-4	chr4:124949130-124949512	XLOC_004061
2	lnc-ANKRD50-4	chr4:124949137-124949446	XLOC_004061
3	lnc-SPRY1-3	chr4:124949080-124949117	NONHSAT098207
4	lnc-SPRY1-3	chr4:124949222-124949446	XLOC_003682
5	lnc-SPRY1-3	chr4:124949136-124949446	NONHSAT098207
6	lnc-ANKRD50-4	chr4:124945249-124945483	XLOC_004061
7	lnc-SPRY1-3	chr4:124949081-124949117	XLOC_003682
8	lnc-SPRY1-3	chr4:124946445-124946758	NONHSAT098207
9	lnc-ANKRD50-4	chr4:124946499-124946758	XLOC_004061
10	lnc-SPRY1-9	chr4:124914869-124914980	ucscGeneNc_uc003ifd_1
11	lnc-ANKRD50-4	chr4:124946730-124946758	XLOC_004061
12	lnc-SPRY1-9	chr4:124969700-124969792	ucscGeneNc_uc003ifd_1
13	lnc-ANKRD50-4	chr4:124946454-124946758	XLOC_004061
14	lnc-ANKRD50-4	chr4:124949137-124949518	XLOC_004061

No data

Variant related genes	Relation type
CLINT1	miRNA target sites
VIM	miRNA target sites
AP1G1	miRNA target sites

Extended variants
information (count: 2239 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2239 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17007710	chr4:124893772-124893773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564115732	chr4:124893833-124893834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376625829	chr4:124893926-124893927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34380213	chr4:124893979-124893980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537180494	chr4:124894024-124894025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557442108	chr4:124894037-124894038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185617638	chr4:124894083-124894084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539848220	chr4:124894107-124894108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190381363	chr4:124894118-124894119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549860732	chr4:124894146-124894147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542144491	chr4:124894156-124894157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182266444	chr4:124894161-124894162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570043282	chr4:124894185-124894186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149330707	chr4:124894220-124894221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544044643	chr4:124894225-124894226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186975109	chr4:124894235-124894236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532822232	chr4:124894269-124894270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190800227	chr4:124894303-124894304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183901009	chr4:124894327-124894328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144545547	chr4:124894380-124894381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373388285	chr4:124894396-124894397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548455625	chr4:124894409-124894410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558057249	chr4:124894423-124894424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139346095	chr4:124894432-124894433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531155626	chr4:124894445-124894446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550850741	chr4:124894472-124894473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570934354	chr4:124894483-124894484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144101909	chr4:124894507-124894508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188849152	chr4:124894525-124894526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566850652	chr4:124894552-124894553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569603175	chr4:124894596-124894597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193059016	chr4:124894597-124894598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113835838	chr4:124894602-124894603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184445319	chr4:124894654-124894655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544403662	chr4:124894717-124894718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4833297	chr4:124894719-124894720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186963274	chr4:124894720-124894721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539918307	chr4:124894795-124894796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559747987	chr4:124894799-124894800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528870704	chr4:124894825-124894826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7655146	chr4:124894887-124894888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72672865	chr4:124894901-124894902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542709336	chr4:124894906-124894907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531073379	chr4:124894909-124894910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116157771	chr4:124894932-124894933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368438687	chr4:124894947-124894948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115016145	chr4:124894976-124894977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191860464	chr4:124894979-124894980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566937940	chr4:124895101-124895102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35633695	chr4:124895105-124895106	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124889400-124895400	Weak transcription	NHDF-Ad	bronchial
2	chr4:124890800-124897600	Weak transcription	Left Ventricle	heart
3	chr4:124893600-124903800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:124894400-124897400	Weak transcription	NHLF	lung
5	chr4:124895000-124895600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr4:124895000-124895600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:124895200-124895800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr4:124895200-124896200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr4:124895400-124898200	Enhancers	NHDF-Ad	bronchial
10	chr4:124895600-124895800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:124895600-124895800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr4:124895600-124896000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr4:124895600-124896400	Enhancers	Fetal Muscle Leg	muscle
14	chr4:124895600-124897200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:124895600-124899200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:124895600-124899200	Enhancers	Fetal Lung	lung
17	chr4:124895600-124899400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:124895600-124899400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:124895800-124896000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:124895800-124896000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:124895800-124896200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:124895800-124897400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:124895800-124899200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:124896000-124896200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:124896000-124896400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:124896000-124897600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr4:124896000-124899000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:124896000-124899200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:124896200-124896400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr4:124896200-124896600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:124896200-124897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:124896400-124897600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:124896400-124897600	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:124896400-124899000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:124896600-124899200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:124896800-124899200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:124897000-124899000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:124897000-124899000	Enhancers	HUVEC	blood vessel
39	chr4:124897000-124899200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:124897200-124897800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:124897200-124898200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:124897200-124898800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:124897200-124899000	Enhancers	Fetal Kidney	kidney
44	chr4:124897400-124897800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:124897400-124898000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr4:124897400-124898000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:124897400-124898000	Enhancers	Primary hematopoietic stem cells	blood
48	chr4:124897400-124898200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:124897400-124898400	Enhancers	NHLF	lung
50	chr4:124897400-124899200	Enhancers	H1 Cell Line	embryonic stem cell

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